Materiały źródłowe

• #1

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7064925/

  The overall objective of this guideline is to provide the user with information on the laboratory diagnosis of inherited epidermolysis bullosa (EB) to improve outcomes. An accurate diagnosis and subclassification of EB enables (i) early prognostication of disease severity, (ii) decision making for patient management, (iii) informed genetic counselling for the patient and family and DNAbased prenatal or preimplantation genetic diagnosis, (iv) longterm surveillance and management of possible complications, (v) inclusion in clinical trials and (vi) precision medicine. […] We strongly recommend that EB laboratory diagnosis should be performed; with the first clinical suspicion of EB an adapted diagnostic technique should be initiated. […] Early diagnosis by IFM and genetic testing is sufficient to provide prognosis and help decision making in most cases.

• #1 Epidermolysis bullosa: Diagnosis and treatment

  https://www.aad.org/public/diseases/a-z/epidermolysis-bullosa-treatment

  If you or your child might have epidermolysis bullosa, its important to find out whats going on. […] The following explains how this condition is diagnosed and what treatment may involve. […] Getting a diagnosis takes time. Your dermatologist begins by closely examining the skin and other parts of the body that this condition can affect, like the inside of the mouth. […] If your dermatologist suspects epidermolysis bullosa after examining the skin and learning about blood relatives, specialized testing is required. This is the only way to know for certain whether someone has this condition. […] Your dermatologist may also recommend genetic testing. It can identify the genes causing epidermolysis bullosa. […] After gathering all the information and test results, your dermatologist will give you the diagnosis. If the diagnosis is epidermolysis bullosa, your dermatologist will talk with you about treatment.

• #1 Epidermolysis Bullosa: Diagnosis, Treatment, and Steps to Take

  https://www.niams.nih.gov/health-topics/epidermolysis-bullosa/diagnosis-treatment-and-steps-to-take

  Doctors usually diagnose epidermolysis bullosa by: […] Completing a physical exam and closely examining the skin, which can help doctors identify where the skin is separating to form blisters. […] Performing a skin biopsy and reviewing the tissue sample using special microscopic techniques, which helps doctors identify which layers of the skin are affected and determine the type of epidermolysis bullosa you have. […] Ordering genetic testing to identify specifically which gene mutations you may have. This helps doctors diagnose the specific type and subtype of the disease. People who have genetic testing should see a specialist or genetic counselor to help them understand the test results.

• #1 Epidermolysis bullosa – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/diagnosis-treatment/drc-20361146

  Your health care provider may identify epidermolysis bullosa from the skin’s appearance. You or your child may need tests to confirm the diagnosis. The tests may include: […] Biopsy for immunofluorescence mapping. With this technique, a small sample of affected skin or mucous membrane is removed and examined with a special microscope. It uses reflected light to identify the layers of skin involved. This test also identifies whether the proteins needed for skin growth are present and healthy. […] Genetic testing. With this test, your health care provider takes a small sample of blood and sends it to a lab for DNA analysis. […] Prenatal testing. Families with a history of epidermolysis bullosa may want to consider prenatal testing and genetic counseling. […] Centers that specialize in the diagnosis, evaluation and treatment of people with epidermolysis bullosa may belong to a network called EB Clinet. Such centers are staffed with doctors, nurses, social workers and rehabilitation specialists who provide specialized care for people with this condition.

• #1 Epidermolysis Bullosa – Dermatologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/dermatologic-disorders/bullous-diseases/epidermolysis-bullosa

  Epidermolysis bullosa is a group of 4 very rare genetic diseases and their subtypes. […] Diagnosis is by skin biopsy with immunofluorescence testing or transmission electron microscopy, and gene analysis. […] Epidermolysis bullosa is suspected based on clinical presentation. Family history may indicate the mode of inheritance and thus the possible type: autosomal dominant inheritance (epidermolysis bullosa simplex, dystrophic epidermolysis bullosa) or autosomal recessive inheritance (junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, Kindler syndrome, rarely epidermolysis bullosa simplex). […] Diagnosis of specific types and subtypes is based on family history, biopsy and immunofluorescence testing or transmission electron microscopy of a freshly induced blister (not from the palms or soles), and gene mutation analysis of a blood sample.

• #1 Diagnosis of epidermolysis bullosa – UpToDate

  https://www.uptodate.com/contents/diagnosis-of-epidermolysis-bullosa/print

  Diagnosis of epidermolysis bullosa […] Epidermolysis bullosa (EB) includes a heterogeneous group of inherited disorders with the common finding of epithelial fragility. The skin and, in some cases, the mucosa develop blisters and/or erosions in response to minimal frictional trauma. Four major EB types are recognized on the basis of the ultrastructural level of skin cleavage: […] ● Epidermolysis bullosa simplex (EBS; intraepidermal) […] ● Junctional epidermolysis bullosa (JEB; intralamina lucida) […] ● Dystrophic epidermolysis bullosa (DEB; sublamina densa) […] ● Kindler epidermolysis bullosa (KEB; intraepidermal, intralamina lucida, and sublamina densa) […] Disclaimer: This generalized information is a limited summary of diagnosis, treatment, and/or medication information. It is not meant to be comprehensive and should be used as a tool to help the user understand and/or assess potential diagnostic and treatment options. It does NOT include all information about conditions, treatments, medications, side effects, or risks that may apply to a specific patient. It is not intended to be medical advice or a substitute for the medical advice, diagnosis, or treatment of a health care provider based on the health care provider’s examination and assessment of a patient’s specific and unique circumstances. Patients must speak with a health care provider for complete information about their health, medical questions, and treatment options, including any risks or benefits regarding use of medications. This information does not endorse any treatments or medications as safe, effective, or approved for treating a specific patient. UpToDate, Inc. and its affiliates disclaim any warranty or liability relating to this information or the use thereof. The use of this information is governed by the Terms of Use, available at https://www.wolterskluwer.com/en/know/clinical-effectiveness-terms.

• #1

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7064925/

  Genetic testing is always recommended for the diagnosis of EB. The index case and, whenever possible, the parents should be tested in order to provide reliable genetic counselling and risk calculation for family members and offspring. […] Methods for genetic testing in EB include NGS with targeted EB gene panel, WES and SS. Additional methods to be applied in selected cases include SNP arrays for segregation analysis, MLPA, qPCR and RNASeq, as well as homozygosity mapping in case of consanguinity. […] IFM is recommended to obtain a rapid diagnosis and prognosis, and to prioritize genetic testing and facilitate interpretation of genetic results. […] If appropriate EB laboratory diagnosis yields inconclusive results, the original diagnosis and the diagnostic strategy should be reevaluated and individualized strategies could be considered.

• #1

  https://www.nhs.uk/conditions/epidermolysis-bullosa/

  EB is usually diagnosed in babies and young children, as the symptoms can be obvious from birth. […] If it’s suspected your child has the condition, they’ll be referred to a skin specialist (dermatologist). […] The specialist will carry out tests to determine the type of EB and help come up with a treatment plan. They may take a small sample of skin (biopsy) to send for testing. […] In some cases it’s possible to test an unborn baby for EB after the 11th week of pregnancy. […] Prenatal tests include amniocentesis and chorionic villus sampling. […] This may be offered if you or your partner are known to be a carrier of the faulty gene associated with EB and there’s a risk of having a child with a severe type of EB. […] If the test confirms your child will have EB, you’ll be offered counselling and advice.

• #1 Genetic Diagnosis of Epidermolysis Bullosa: Recommendations From an Expert Spanish Research Group | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-genetic-diagnosis-epidermolysis-bullosa-recommendations-articulo-S1578219017304183

  Once the causative mutation has been identified, it is essential to verify the hereditary pattern to establish the risk of recurrence in future siblings or offspring. […] In these cases, healthy siblings of affected individuals should undergo genetic study as well when they reach adulthood to determine whether they are carriers or not. […] Prenatal diagnosis can only be made if the gene responsible for EB and the mutation/s in that particular family are known. […] Currently, assisted reproduction techniques offer the possibility of diagnosis of embryos and their subsequent implantation in the maternal uterus if they are free of the disease-causing mutations.

• #1

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7064925/

  Results of the EB laboratory diagnosis should be communicated to the patient and family, preferably by geneticists and dermatologists with experience in the field, and according to national rules and regulations. Genetic counselling is always recommended. […] In cases with skin fragility and blistering, standard histopathological evaluation and direct immunofluorescence of skin samples, microbiological swabs and indirect immunofluorescence with patient’s serum (and any other laboratory test required) are routinely indicated to rule out differential diagnoses of EB. […] Ideally, both genetic testing and IFM should be performed to allow complete molecular characterization of EB, at both the DNA and protein levels. These methods provide complementary information that enables prediction of the consequences of novel sequence variants and genotypephenotype correlations.

• #1 Epidermolysis Bullosa (EB) – Rare Awareness Rare Education

  https://rareportal.org.au/rare-disease/epidermolysis-bullosa-eb/

  Diagnosis of epidermolysis bullosa (EB), including the identification of the particular type of EB, may be made based on detailed family history, clinical examination for characteristic signs of EB and a skin biopsy to identify structural abnormalities in the skin. Genetic testing may be used to confirm the diagnosis. […] In cases where there is a family history of EB, and the causal gene and its genetic change has been identified, prenatal diagnosis may be an option. […] Differential diagnosis (to rule out other conditions), particularly in the newborns, include infections, pompholyx, immunobullous disease, porphyria, ichthyoses, palmoplantar keratoderma, Ehlers-Danlos syndromes (EDS), incontinentia pigmenti, Poikiloderma syndromes, Bullous mastocytosis and Epidermolysis bullosa acquisita.

• #1 Epidermolysis bullosa

  https://dermnetnz.org/topics/epidermolysis-bullosa

  EB should be distinguished from common friction blisters, and from epidermolysis bullosa acquisita (EBA), which is a blistering autoimmune disease that is not inherited and often doesn’t develop until adult life. […] International consensus on the diagnosis and classification of EB has resulted in updated recommendations (2014), based on newer clinical and molecular data. […] In the dominant subtypes of EB, where an informative family tree is known, it is often acceptable for a clinical diagnosis (based on the presenting signs) to be made by a specialist dermatologist. […] Diagnostic tests are also available in some countries and include skin biopsy of a newly induced blister which undergoes immunofluorescence antigen mapping (IFM) and transmission electron microscopy (EM). Mutational analysis (blood testing of genes), although not currently considered the first-line diagnostic test, is also available in some countries. […] A referral to a dermatologist will be required.

• #1 Genetic Diagnosis of Epidermolysis Bullosa: Recommendations From an Expert Spanish Research Group | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-genetic-diagnosis-epidermolysis-bullosa-recommendations-articulo-S1578219017304183

  The family tree should show, among others, the age of the parent, possible consanguinity, and geographical origin of the family. […] In adult patients in whom the symptomatology of the disease is completely established, manifestations may be very specific and can guide diagnosis towards one of the subtypes. […] Finally, identification of the mutation in the gene that encodes the protein whose abnormality is responsible for the disease enables definitive diagnosis, helps (within certain limits) to provide a prognosis and is key for inclusion of patients in clinical trials. […] The search for mutations is very laborious as more than 1000 have been described. In many cases, new mutations that are associated only with a single family continue to be discovered. […] The use of massive next generation sequencing (NGS) currently allows greater sensitivity in the diagnosis of EB.

• #1 Genetic Diagnosis of Epidermolysis Bullosa: Recommendations From an Expert Spanish Research Group | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-genetic-diagnosis-epidermolysis-bullosa-recommendations-articulo-S1578219017304183

  The present guidelines aim to disseminate the procedure for diagnosing EB in our laboratory and thus avoid suboptimal or incomplete clinical diagnoses. The recommendations we provide are the result of more than 10 years experience in the molecular diagnosis of EB in Spain. […] Given the large number of proteins involved in EB, diagnosis is complex and classification has been subject, over the last 20 years, to regular international consensus updates, the most recent being in 2013. […] The most recent classification of EB is based on a layer system (onion skinning) which takes into account sequentially the level of skin cleavage, phenotypic characteristics, mode of inheritance, antigen mapping findings, the gene involved, and the causal mutation of the disease. […] Diagnosis of EB begins with a complete clinical history of the patient, including cutaneous and extracutaneous manifestations of the disease, the moment of onset of symptoms, and relevant family history.

• #1 Epidermolysis Bullosa and related disorders

  https://umcgresearch.org/w/epidermoepidermolysis-bullosa-and-related-disorders

  Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. […] Currently there is no curative treatment. […] In order to impact the lifes of both our current and future patients: […] Find an exact molecular diagnosis. […] To be able to provide patients with personal forms of therapy we are looking for gene mutations. Regular technology did not find us the mutation which causes Epidermolysis Bullosa. […] We evaluate care for our patients using sound scientific methods, so we can optimize care and impact the lifes of our patients where it matters most. […] RNA based therapy, exon skipping, has emerged as a potential therapy for Epidermolysis Bullosa and related disorders. […] The proposed treatment cannot yet be used in patients. The effectiveness has not been proven and has yet to be demonstrated in mice. […] We also have an immunodermatology laboratory for diagnostics and research.

• #2 Genetic Diagnosis of Epidermolysis Bullosa: Recommendations From an Expert Spanish Research Group | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-genetic-diagnosis-epidermolysis-bullosa-recommendations-articulo-S1578219017304183

  Epidermolysis bullosa (EB) is a rare genetic disease that causes mucocutaneous fragility. It comprises a clinically and genetically heterogeneous group of disorder characterized by spontaneous or contact/friction-induced blistering. EB is classified into 4 types: simplex, junctional, dystrophic, and Kindler syndrome, and 30 subtypes. […] The disease is caused by defects in proteins implicated in dermal-epidermal adhesion. At least 19 genes have been characterized and more than 1000 mutations identified, thus rendering diagnosis complex. […] Molecular diagnosis of EB is the last stage of a laborious process that starts with a detailed clinical history compilation and careful procurement of a skin fresh biopsy that includes an area where the epidermis detaches from the dermis. […] The results of the molecular diagnosis enable the physician to provide appropriate genetic counseling (inheritance pattern, risk of recurrence, and options for prenatal and preimplantation diagnosis) and implement subsequent preventive programs, as well as to establish a reasonable clinical prognosis facilitating access to specific therapy and rehabilitation.

• #2 Genetic Diagnosis of Epidermolysis Bullosa: Recommendations From an Expert Spanish Research Group | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-genetic-diagnosis-epidermolysis-bullosa-recommendations-articulo-S1578219017304183

  The present guidelines aim to disseminate the procedure for diagnosing EB in our laboratory and thus avoid suboptimal or incomplete clinical diagnoses. The recommendations we provide are the result of more than 10 years experience in the molecular diagnosis of EB in Spain. […] Given the large number of proteins involved in EB, diagnosis is complex and classification has been subject, over the last 20 years, to regular international consensus updates, the most recent being in 2013. […] The most recent classification of EB is based on a layer system (onion skinning) which takes into account sequentially the level of skin cleavage, phenotypic characteristics, mode of inheritance, antigen mapping findings, the gene involved, and the causal mutation of the disease. […] Diagnosis of EB begins with a complete clinical history of the patient, including cutaneous and extracutaneous manifestations of the disease, the moment of onset of symptoms, and relevant family history.

• #2

  https://www.nhs.uk/conditions/epidermolysis-bullosa/

  EB is usually diagnosed in babies and young children, as the symptoms can be obvious from birth. […] If it’s suspected your child has the condition, they’ll be referred to a skin specialist (dermatologist). […] The specialist will carry out tests to determine the type of EB and help come up with a treatment plan. They may take a small sample of skin (biopsy) to send for testing. […] In some cases it’s possible to test an unborn baby for EB after the 11th week of pregnancy. […] Prenatal tests include amniocentesis and chorionic villus sampling. […] This may be offered if you or your partner are known to be a carrier of the faulty gene associated with EB and there’s a risk of having a child with a severe type of EB. […] If the test confirms your child will have EB, you’ll be offered counselling and advice.

• #2 Epidermolysis Bullosa Workup: Procedures

  https://emedicine.medscape.com/article/1062939-workup

  Obtain a biopsy specimen from a fresh blister. The best way to obtain a fresh blister is to induce it in the office by gently rotating a pencil eraser back and forth over an area of skin until epidermal separation is appreciated. Perform the biopsy at the edge of the blister, sampling both unblistered and blistered skin. Place the specimen into the appropriate holding medium (check with the laboratory beforehand) and immediately send it for transmission EM. EM biopsy holding medium usually contains glutaraldehyde. […] EM is the criterion standard for determining the level of blistering. EM can provide additional information on BMZ morphology that can be helpful in making the diagnosis. For example, intermediate filament clumping indicates Dowling-Meara epidermolysis bullosa simplex. Rudimentary hemidesmosomes often are found in junctional epidermolysis bullosa subtypes. Absent or altered anchoring fibrils often occur in dystrophic epidermolysis bullosa subtypes.

• #2

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7064925/

  Genetic testing is always recommended for the diagnosis of EB. The index case and, whenever possible, the parents should be tested in order to provide reliable genetic counselling and risk calculation for family members and offspring. […] Methods for genetic testing in EB include NGS with targeted EB gene panel, WES and SS. Additional methods to be applied in selected cases include SNP arrays for segregation analysis, MLPA, qPCR and RNASeq, as well as homozygosity mapping in case of consanguinity. […] IFM is recommended to obtain a rapid diagnosis and prognosis, and to prioritize genetic testing and facilitate interpretation of genetic results. […] If appropriate EB laboratory diagnosis yields inconclusive results, the original diagnosis and the diagnostic strategy should be reevaluated and individualized strategies could be considered.

• #2 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Epidermolysis-Bullosa-Diagnosis.aspx

  The four main types of epidermolysis bullosa (EB): dystrophic epidermolysis bullosa (DEB), epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and Kindler syndrome (KS) are each diagnosed by determining the ultra-structural level at which blisters develop in response to minor traction to the skin. […] The subtypes of EB may then be diagnosed on their basis of clinical phenotype, transmission, electron and immunohistochemical findings. […] A specialist dermatologist may be able to make a clinical diagnosis in cases where an informative family tree is available. This is primarily done based on the presenting clinical signs of the patient and personal and family history. […] The diagnostic tests that are available in some countries include skin biopsies of the blisters that are investigated with procedures such as immunofluorescence mapping (IFM).

• #2 Epidermolysis Bullosa NGS Panel | Fulgent Genetics

  https://www.fulgentgenetics.com/epidermolysis-bullosa

  Epidermolysis bullosa (EB) is a group of diseases characterized by skin fragility and the development of blisters on the skin or mucous membranes. […] Patients with unexplained blistering, itchy skin, and nail abnormalities may have a diagnosis of EB confirmed through genetic testing. […] Genetic testing can confirm an EB diagnosis. Confirming a case of EB through genetic testing can lead to patients receiving more personalized care and earlier intervention to minimize trauma and treat blisters optimally. […] Genetic testing for epidermolysis bullosa can: Establish or confirm the appropriate diagnosis, Identify risks for additional related symptoms, Assist in modifying age-appropriate play to minimize trauma, Result in more personalized treatment and symptom management, Inform family members about their own risk factors, Provide options for family planning.

• #2 Genetic Diagnosis of Epidermolysis Bullosa: Recommendations From an Expert Spanish Research Group | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-genetic-diagnosis-epidermolysis-bullosa-recommendations-articulo-S1578219017304183

  The family tree should show, among others, the age of the parent, possible consanguinity, and geographical origin of the family. […] In adult patients in whom the symptomatology of the disease is completely established, manifestations may be very specific and can guide diagnosis towards one of the subtypes. […] Finally, identification of the mutation in the gene that encodes the protein whose abnormality is responsible for the disease enables definitive diagnosis, helps (within certain limits) to provide a prognosis and is key for inclusion of patients in clinical trials. […] The search for mutations is very laborious as more than 1000 have been described. In many cases, new mutations that are associated only with a single family continue to be discovered. […] The use of massive next generation sequencing (NGS) currently allows greater sensitivity in the diagnosis of EB.

• #2 Epidermolysis Bullosa Workup: Procedures

  https://emedicine.medscape.com/article/1062939-workup

  Once the mutations are identified in a family, reliable prenatal diagnosis is possible. DNA for prenatal diagnosis can be obtained as a chorionic villi sample as early as the ninth week of gestation. Alternatively, amniotic fluid drawn after the eleventh week can provide the necessary DNA. Schedule the procedure in close conjunction with the diagnostic laboratory that will receive the sample.

• #2 Recessive Dystrophic Epidermolysis Bullosa (RDEB) | Great Ormond Street Hospital

  https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/severe-recessive-dystrophic-epidermolysis-bullosa-rdeb/

  Epidermolysis bullosa (EB) is the term used to describe a number of rare genetic conditions which cause the skin to blister and shear in response to minimal friction and trauma. […] How is EB diagnosed? In the majority of cases, the type of EB can be determined by analysis of a skin biopsy (tiny sample of skin) under a microscope. Blood samples are also taken from the child and parents to look for the specific gene changes. […] Is it possible to test for EB before birth? In most cases, prenatal testing is available for parents who are known to be carriers of recessive dystrophic EB. The test is called chorionic villous sampling (CVS) and involves a small piece of the placenta being taken for genetic testing after the 11th week of pregnancy. It may also be possible to test before pregnancy is established using IVF techniques and testing the embryos before they are implanted.

• #2 Demystifying the Diagnosis Process for Epidermolysis Bullosa – BLDG Active

  https://www.bldgactive.com/blog-demystifying-the-diagnosis-process-for-epidermolysis-bullosa/?srsltid=AfmBOooaY1MZQpdJhXfWCwW_9fA2LneSJAVP5cby5WFUc59_0bVwUpyR

  Caring for someone with EB often requires a multi-disciplinary approach. Depending on the subtype and severity, a care team may include dermatologists, geneticists, wound care specialists, and occupational therapists. […] Demystifying the diagnosis process for Epidermolysis Bullosa is essential for individuals and families facing this challenging condition. Understanding the steps involved in diagnosis, establishing a care team, and accessing support can make the journey more manageable.

• #2 Epidermolysis Bullosa: The Importance of an Efficient Diagnosis – LiVDerm

  https://www.livderm.org/epidermolysis-bullosa-the-importance-of-an-efficient-diagnosis/

  Providing individuals with an accurate EB diagnosis is a crucial element in patient care. […] That being said, it is only by a conclusive diagnosis that a tailored care plan can be put into effect. […] A conclusive diagnosis may also be considered an essential aspect when it comes to family planning. […] According to DEBRA International Clinical Practice Guidelines, genetic testing is always recommended for the diagnosis of EB. […] Despite this, only 56% of patients with EB have had genetic testing to confirm EB type. […] For many individuals, this opportunity could be life-changing as it can provide more than just peace of mind and a conclusive diagnosis. […] Genetic testing for EB can provide a complete and accurate diagnosis for the patient so they are able to move forward with appropriate care and treatment options with their health care provider.

• #2 Epidermolysis Bullosa (EB) – Rare Awareness Rare Education

  https://rareportal.org.au/rare-disease/epidermolysis-bullosa-eb/

  Diagnosis of epidermolysis bullosa (EB), including the identification of the particular type of EB, may be made based on detailed family history, clinical examination for characteristic signs of EB and a skin biopsy to identify structural abnormalities in the skin. Genetic testing may be used to confirm the diagnosis. […] In cases where there is a family history of EB, and the causal gene and its genetic change has been identified, prenatal diagnosis may be an option. […] Differential diagnosis (to rule out other conditions), particularly in the newborns, include infections, pompholyx, immunobullous disease, porphyria, ichthyoses, palmoplantar keratoderma, Ehlers-Danlos syndromes (EDS), incontinentia pigmenti, Poikiloderma syndromes, Bullous mastocytosis and Epidermolysis bullosa acquisita.

• #2 Epidermolysis Bullosa | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/158627

  Epidermolysis bullosa (EB) defines a prototypic group of rare, inherited dermatoses, characteristically featuring skin fragility secondary to structural defects in the dermo-epidermal junction. […] Sixteen genes have been implicated in underpinning at least 30 observed epidermolysis bullosa subtypes. […] Thus, certain subtypes of EB confer high morbidity, with a risk of increased mortality due to multi-system pathology. […] Inherited epidermolysis bullosa is distinct from epidermolysis bullosa aquisita, a separate, non-inherited, immunobullous disorder characterized by antibodies against type VII collagen. […] The epidermis is the uppermost layer of the dermo-epidermal junction and overlies the dermis. […] The culmination of this dermo-epidermal junction malfunction is skin fragility.

• #2 Diagnosing EB | DEBRA International

  https://www.debra-international.org/diagnosing-eb

  Laboratory diagnosis is essential to determine the (sub)type of EB and the precise cause for it at the genetic and protein levels. This helps to predict the severity of the condition, provide the appropriate care, and participate in clinical trials among others. There are two main methods used in EB laboratory diagnosis: genetic testing and skin sample analysis. […] To perform genetic testing, blood samples are taken from the person with EB and their parents. The samples are used for the extraction of genomic DNA, which contains all the information on our individual genetic make-up. A disease-causing variant in EB-associated genes can be detected by Sanger sequencing (SS) of a specific gene or by next generation sequencing (NGS), which can analyse ALL the EB genes at once. […] This analysis looks at changes in protein expression, localisation, and ultrastructural modifications (changes in skin components that can only be seen by electron microscopy). Immunofluorescence Mapping (IFM) examines the proteins in the skin. EB-associated proteins can be recognised by specific (antibodies) reagents. When compared to a normal skin sample, this technique can show an absent or reduced protein amount. Transmission Electron Microscopy (TEM) is used to directly examine the structural components of the skin, which cannot be seen with a conventional microscope. TEM allows samples to be magnified by as much as 10 million times. It is rarely used in standard EB diagnosis but it can be useful in solving difficult cases.

• #3 Epidermolysis Bullosa: The Importance of an Efficient Diagnosis – LiVDerm

  https://www.livderm.org/epidermolysis-bullosa-the-importance-of-an-efficient-diagnosis/

  Providing individuals with an accurate EB diagnosis is a crucial element in patient care. […] That being said, it is only by a conclusive diagnosis that a tailored care plan can be put into effect. […] A conclusive diagnosis may also be considered an essential aspect when it comes to family planning. […] According to DEBRA International Clinical Practice Guidelines, genetic testing is always recommended for the diagnosis of EB. […] Despite this, only 56% of patients with EB have had genetic testing to confirm EB type. […] For many individuals, this opportunity could be life-changing as it can provide more than just peace of mind and a conclusive diagnosis. […] Genetic testing for EB can provide a complete and accurate diagnosis for the patient so they are able to move forward with appropriate care and treatment options with their health care provider.

• #3 Epidermolysis Bullosa DiagnosisEnvelope icon

  https://epidermolysisbullosanews.com/epidermolysis-bullosa-diagnosis/

  Families who are known to carry a defective gene associated with EB are at risk of having a baby who develops the condition. Prenatal testing can be conducted as early as 11 weeks into pregnancy. The procedure includes amniocentesis, where a small amount of amniotic fluid, which surrounds the fetus in the womb, is examined, or sampling the chorionic villi, which are projections of placenta that contain the same genetic material as the fetus. […] If prenatal testing confirms the unborn baby has EB, parents are offered counseling to help them understand the results and decide how they wish to continue with the pregnancy.

• #3 EB patients urge earlier disease diagnosis, better communicationEnvelope icon

  https://epidermolysisbullosanews.com/news/eb-patients-urge-earlier-disease-diagnosis-better-communication/

  Along with parents of children with epidermolysis bullosa (EB), adults with the rare disease in the Netherlands urged access to a quicker diagnosis and more accurate prognosis, as well as broader public awareness and education about the condition, in a new interview-based study. […] “A timely and precise EB diagnosis is crucial to improve emotional outcomes of individuals confronted with EB,” the team wrote. […] “Advances in EB diagnostics lead to quicker and more precise diagnosis of EB, which raises the question of how patients and parents feel about current EB diagnostic trajectories,” the researchers wrote. […] This study describes the lived experience and needs of parents of children and adult patients during the diagnostic process of EB. […] The need for a fast and accurate diagnosis was particularly important for parents of children with severe symptoms.

• #3

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7064925/

  Results of the EB laboratory diagnosis should be communicated to the patient and family, preferably by geneticists and dermatologists with experience in the field, and according to national rules and regulations. Genetic counselling is always recommended. […] In cases with skin fragility and blistering, standard histopathological evaluation and direct immunofluorescence of skin samples, microbiological swabs and indirect immunofluorescence with patient’s serum (and any other laboratory test required) are routinely indicated to rule out differential diagnoses of EB. […] Ideally, both genetic testing and IFM should be performed to allow complete molecular characterization of EB, at both the DNA and protein levels. These methods provide complementary information that enables prediction of the consequences of novel sequence variants and genotypephenotype correlations.

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